List of variants reported for Kartagener syndrome by Counsyl

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)	rs11999454	0.02757
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)	rs3818577	0.02063
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)	rs78865254	0.00348
NM_012144.4(DNAI1):c.389-1G>C	rs200488444	0.00046
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)	rs140820295	0.00034
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)	rs141157671	0.00017
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)	rs146434058	0.00012
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)	rs756877115	0.00007
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)	rs376252276	0.00005
NM_012144.4(DNAI1):c.660C>T (p.Asn220=)	rs146015192	0.00005
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys)	rs564706097	0.00002
NM_012144.4(DNAI1):c.1719-11C>T	rs774758389	0.00001
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)	rs567346433
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)	rs727502978
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del)	rs878854967

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